Tay-Sachs disease carrier screening: Follow-up of a case-finding approach

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Abstract
In order to determine the status of Tay-Sachs disease carrier identification in Toronto, Canada, since a change was made in 1978 from testing in the context of large-scale community clinics (up to 1,200 individuals tested in 1 day) to a case-finding approach to screening, a sample of area Jews was surveyed by questionnaire. The results indicated that a trend has developed for individuals at risk to delay testing until pregnancy when carrier detection is technically more difficult and the time available for retesting and organizing prenatal diagnosis is limited. If the trend continues, the full potential of chorionic villus sampling (CVS) for the prenatal diagnosis of the disease will be difficult to realize.